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The Upside of Down

By: Lourdes Nena A. Cabison-Carlos, MDThe Upside of Down

Eva is a mother of three children, including a 13-month-old boy with Down syndrome. It’s amazing how much understanding she has about her child’s condition, but what is more impressive is how much love she gives her child. Let’s learn more about Down syndrome so we can likewise increase our understanding for individuals with this condition.

What is Down Syndrome?

Down syndrome (DS) is a genetic disorder also known as trisomy 21. It was named after Dr John Langdon Down, who fully described the syndrome in 1866. DS is the most common autosomal chromosome abnormality. It is characteristically associated with physical abnormalities, typical facial features, and mild to moderate intellectual disability.

What causes DS?

Down syndrome is a chromosomal abnormality. Normally, a baby is born with 46 chromosomes. Babies with DS have 47 chromosomes. This is usually a result of the replication in chromosome 21 so that instead of 2 sets, a baby with DS gets 3. This is the reason why DS is also given the name trisomy 21. However, there are other causes, such as mosaicism and translocation. Why these happen remain a mystery to the experts. But scientists have identified several risk factors, which include the following:

  • Advanced maternal age

               - Women who are older than 35 years have a higher risk of having children with Down.

  • Carriers of the genetic translocation for Down syndrome

               - This can be passed by both mother and father.

  • Previous child with Down syndrome

               - Those who have a child with Down syndrome are more likely to have another child with the same condition.

What are the signs and symptoms?

While it is true that patients with Down syndrome have typical physical characteristics, there is a great variability in the phenotypical expression. What does this mean? It means that there are differences in the genetic expression in each individual, which leads to the variability in the severity of symptoms. This is why some patients with DS can function almost independently, while some would require more assistance. Below are the common signs and symptoms seen in patients with DS.

  • Distinctive facial features: flat face, short neck, low-set ears, slanting eyes, and small mouth
  • Low muscle tone
  • Loose joints
  • Single palmar crease (also known as the Simian crease)
  • Shorter than normal adult height

             - Average adult height for males with DS is 5’1”, while for females, average is 4’9”

  • Delay in language and motor development
  • Decreased mental function

             - People with DS may have mild to moderate intellectual disability, but some have been known to possess normal to high IQ.

In addition, people with DS are at a higher risk of developing cardiovascular problems, leukemia, respiratory, and intestinal problems. It is important to note that persons with DS are capable of having children. Fifteen to thirty percent of women with DS are fertile. And while the majority of men with DS are infertile, there are case reports of them fathering normal children. The most important factor is adequate support from family, friends, and medical staff so that they can make appropriate decisions when and if they do enter a relationship and decide to have children.

How is it diagnosed?

Thanks to the modern technology, Down syndrome can now be diagnosed even if the baby is still inside the mother’s womb. The American College of Obstetrics and Gynecology recommends the screening of all pregnant mothers regardless of age. These include blood tests, ultrasound, and sometimes, more invasive techniques such as amniocentesis (testing the amniotic fluid) and chorionic villous sampling (getting cells from the placenta).

At birth, DS is diagnosed through the characteristic appearance of the infant, and this is then confirmed by chromosomal analysis.

What is the treatment?

Down syndrome is a lifelong condition because it is a genetic disorder. Support is needed to improve their quality of life. Children with DS will need a multi-disciplinary team aimed at helping them achieve their full potential. Medical conditions such as cardiac and respiratory defects should be addressed appropriately. Developmental pediatricians, occupational, physical and speech therapists may be needed depending on the degree of developmental delay. Some children do well enough to be integrated into regular schools, while some would need more supervision.

What is important to realize is that when children with DS are given timely and appropriate support, they can grow up to be self-sufficient adults. And as we learn more about DS, more and more people are becoming aware and open-minded about the condition. There are more schools and centers that are capable of catering not only to people with DS but to other individuals with different needs as well. We do have laws that cater to the needs of people who have disabilities, but we need proper implementation.

How do you deal with the daily struggles?

Children with DS are not too different from regular kids. They need love, affection, friendship, and sometimes, discipline. Try to establish a regular routine for you and your family. Talk to them and listen. Given that children with DS can have near-normal to normal IQ, they are perceptive and they understand (without anyone telling them) that they are differently-abled compared to their peers.  Hence, it is important to give them some control over their decisions. Assist and allow them to make choices of their own, and support them when they have problems.  

Supporting the support system

Having a child demands a lot from parents, but having a child with Down syndrome can be overwhelming. The family is the first and most important resource of a child, normal or otherwise. Hence, it is vital to strengthen this unit. Strengthening it means that aside from providing support for the child, each family member should also pay attention to their own needs. How it is done depends on the family, but here are a few tips:

  • Enhance your knowledge. It is important that everybody (parents, brothers, and sisters, relatives) in the family understands the condition and the demands of raising a child with DS. Learning more about the condition removes the stigma, and changes some antiquated attitudes and beliefs about DS.
  • Join support groups. There are several societies in the Philippines that can help you and give you advice when it comes to raising children with DS. Sometimes, just talking about the challenges you experience can help a lot.
  • Create a realistic expectation for your child and yourself. What your child needs as opposed to what you want him/her to achieve might be two different things. Make a list of the things that has to be done (tests, therapy, school) and talk this over with your child’s doctors and therapists. After which, prioritize those which need to be done ASAP against those that can wait.
  • Be healthy. When you are healthy, you are in the best position to take care of your child.
  • Ask for help. It’s easy to get crazy when you try to juggle doctor’s appointments, therapy, and grocery shopping along with work and marriage. Family members and friends can take part in caregiving so you can have time to catch your breath.

Although we have come a long way, as a community, we still have a lot to improve on. We need to increase awareness to foster respect and understanding for children with DS. Although DS is a lifelong condition, it is not a life sentence. Just recently, Mikayla Holmgren became the first person with DS to compete in a Miss USA state pageant. Do you remember fellow Filipino Brina Maxino, who got invited by then-US President Barack Obama to the White House? Well, Brina has achieved a lot and she did not let DS stand in her way. She is a Global Youth Ambassador, a college degree holder, a motivational speaker and a part-time teacher. Mikayla and Brina are excellent examples of individuals whose family did not allow the condition to eclipse their lives so they can find space to shine on their own.

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